Hospital de Santa Maria
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Asthma and rhinitis have different genetic profiles for IL13, IL17A and GSTP1 polymorphisms
Get PDFBACKGROUND:
Asthma and rhinitis have a complex etiology, depending on multiple genetic and environmental risk factors. An increasing number of susceptibility genes are currently being identified, but the majority of reported associations have not been consistently replicated across populations of different genetic backgrounds.
PURPOSE:
To evaluate whether polymorphisms of IL4R (rs1805015), IL13 (rs20541), IL17A (rs2275913) and GSTP1 (rs1695) genes are associated with rhinitis and/or asthma in adults of Portuguese ancestry.
METHODS:
192 unrelated healthy individuals and 232 patients, 83 with rhinitis and 149 with asthma, were studied. All polymorphisms were detected by real time polymerase chain reaction (PCR) using TaqMan assays.
RESULTS:
Comparing to controls, significant association with asthma was observed for GSTP1 rs1695 AA genotype (odds ratio (OR) - 1.96; 95% CI - 1.18 to 3.25; p=0.010). The association sustains for allergic asthma (OR - 2.17; 95% CI - 1.23 to 3.80; p=0.007). IL13 rs20541 GG genotype was associated with less susceptibility to asthma (OR - 0.55, 95% CI - 0.33 to 0.94, p=0.028). Among patients, IL17A rs2275913 AA genotype was less associated with asthma than with rhinitis (OR - 0.20; 95% CI of 0.07 to 0.56; p=0.002). A similar association was found for IL13 rs20541 GG genotype (OR - 0.48; 95% CI of 0.25 to 0.93; p=0.031). There were no significant differences in the distribution of allelic and genotypic frequencies between patients and controls for the IL4R polymorphism' analyzed.
CONCLUSION:
These results support the existence of a significant association between GSTP1 rs1695 and IL13 rs20541 SNPs, with susceptibility to asthma, in the population studied. Different genotype profiles of IL17A and IL13 genes seem to influence the clinical pattern of disease expression mainly confined to the upper airways, as rhinitis, or including the lower airways, as asthma
Oxidative Stress, DNA, Cell Cycle/Cell Cycle Associated Proteins and Multidrug Resistance Proteins: Targets of Human Amniotic Membrane in Hepatocellular Carcinoma
No full textThe anticancer effects of human amniotic membrane (hAM) have been studied over the last decade. However, the action mechanisms responsible for these effects are not fully understood until now. Previously results reported by our team proved that hAM is able to induce cytotoxicity and cell death in hepatocellular carcinoma (HCC), a worldwide high incident and mortal cancer. Therefore, this experimental study aimed to investigate the cellular targets of hAM protein extracts (hAMPE) in HCC through in vitro studies. Our results showed that hAMPE is able to modify oxidative stress environment in all HCC cell lines, as well as its cell cycle. hAMPE differently targets deoxyribonucleic acid (DNA), P21, P53, β-catenin and multidrug resistance (MDR) proteins in HCC cell lines. In conclusion, hAMPE has several targets in HCC, being clear that the success of this treatment depends of a personalized therapy based on the biological and genetic characteristics of the tumor
Predictors of first-line treatment persistence in a Portuguese cohort of relapsing-remitting multiple sclerosis
Get PDFTreatment persistence in first-line injectable disease-modifying therapies (DMT) for relapsing-remitting multiple sclerosis (RRMS) is an important indicator of effectiveness. Identifying predictors of treatment discontinuation is important as there are other therapies currently available and a growing range of emerging drugs. We report a retrospective study of RRMS and clinically isolated syndrome patients followed in a University Hospital during a 13-year period with the objective of identifying predictors of treatment persistence. An evaluation of persistence on the first DMT, rates of DMT discontinuation, and reasons and predictors of discontinuation was performed. A total of 410 patients were included, 69% female, with mean disease duration of 37.8months, mean age of 34.2years and mean follow-up time of 6.1years. The first DMT was glatiramer acetate (GA) in 27.56% of patients, interferon (IFN) β-1a intramuscular in 26.34%, IFNβ-1b in 26.10%, IFNβ-1a22 in 13.66% and IFNβ-1a44 in 6.34%. Treatment was discontinued in 16.34% of patients after 1year of treatment and in 50.24% of patients in the total follow-up time, with a mean time for discontinuation of 39.80months. Higher baseline Expanded Disability Status Scale score was an independent predictor of treatment discontinuation (hazard ratio 1.35, p=0.002). After the first year, treatment persistence was 90.74% for IFNβ-1a-IM, 88.46% for IFNβ-1a44, 83.18% for IFNβ-1b, 83.19% for GA and 69.64% for IFNβ-1a22 (p=0.014). Lower frequency of administration was associated with higher persistence rates. The most common reason for treatment discontinuation was lack of efficacy in all DMT subgroups.info:eu-repo/semantics/publishedVersio
Collteral loop approach from left to right liver lobe: Endovascular recanalization of a hepatic vein in Budd-Chiari syndrome
No full textWe report the approach to a 29 year old patient presenting with the diagnosis of a Budd-Chiari Syndrome, with clinical deterioration after initial anticoagulation treatment. The patient was proposed to endovascular treatment. Through intra-hepatic shunting seen at angiography, and from a left to right liver lobe, a guide-wire was passed retrogadely and allowed sufficient support to perform hepatic vein angioplasty and stenting. The patient responded favourably and liver transplant was avoided.info:eu-repo/semantics/publishedVersio
Dismetrias dos membros inferiores após artroplastias totais primárias da anca: medidas preventivas
Get PDFApesar de ser reconhecida como uma das intervenções de maior sucesso em cirurgia reconstrutiva ortopédica, a artroplastia total primária da anca não está isenta de complicações. Desigualdades no comprimento dos membros inferiores até 1 cm são comuns e, de uma forma geral, bem toleradas. Todavia, dismetrias maiores podem estar associadas a dor e a lesões nervosas e serem, por isso, motivo de insatisfação do doente e de litigância.
Embora não se possa eliminar, de todo, as dismetrias após uma artroplastia total da anca, estas podem ser minimizadas através de uma série de procedimentos antes e durante a intervenção cirúrgica. Neste sentido, são de realçar o valor da anamnese e do exame físico com determinação do comprimento real e aparente dos membros inferiores, a avaliação e planificação radiográficas, uma diversidade de provas e medições efetuadas durante a operação e a cirurgia assistida por computador.
A planificação radiográfica pré-operatória integra uma das etapas mais importantes no processo da implantação de uma prótese total da anca, de sorte a restabelecer a biomecânica da anca e preservar ou restituir a isometria dos membros inferiores, sem comprometer a estabilidade da prótese
Social Cognition, Negative Symptoms and Psychosocial Functioning in Schizophrenia.
Get PDFAlthough functional recovery could be advocated as an achievable treatment goal, many effective interventions for the treatment of psychotic symptoms, such as antipsychotic drugs, may not improve functioning. The last two decades of cognitive and clinical research on schizophrenia were a turning point for the firm acknowledgment of how relevant social cognitive deficits and negative symptoms could be in predicting psychosocial functioning. The relevance of social cognition dysfunction in schizophrenia patients’ daily living is now unabated. In fact, social cognition deficits could be the most significant predictor of functionality in patients with schizophrenia, non-redundantly with neurocognition. Emerging evidence suggests that negative symptoms appear to play an indirect role, mediating the relationship between neurocognition and social cognition with functional outcomes. Further explorations of this mediating role of negative symptoms have revealed that motivational deficits appear to be particularly important in explaining the relationship between both neurocognitive and social cognitive dysfunction and functional outcomes in schizophrenia. In this paper we will address the relative contribution of two key constructs—social cognitive deficits and negative symptoms, namely how intertwined they could be in daily life functioning of patients with schizophrenia
Opinions about bedside nursing handover in surgical units: translation, adaptation and validation of questionnaires
No full textEnquadramento: Apesar da visita de enfermagem ou passagem de turno junto dos doentes garantir a continuidade dos cuidados
de enfermagem, origina diversas questões éticas.
Objetivos: Traduzir, adaptar e validar 2 questionários de colheita de dados sobre a visita de enfermagem em unidades cirúrgicas
para a cultura portuguesa; identificar a opinião dos doentes e dos enfermeiros sobre a visita de enfermagem.
Metodologia: Tradução, retroversão e adaptação dos questionários aplicados em 7 unidades cirúrgicas de um hospital central
em Portugal de 22/08/2008 a 28/06/2009. A amostragem não probabilística acidental foi constituída por 137 enfermeiros e 96
doentes.
Resultados: A visita de enfermagem promove a relação empática e de ajuda; a observação do doente e o planeamento de
cuidados, no entanto é necessário clarificar o seu objetivo; incentivar à participação e ao envolvimento dos doentes; utilizar um
discurso compreensível e garantir a privacidade da informação.
Conclusão: Os questionários revelaram-se fidedignos e válidos na identificação das opiniões dos doentes e dos enfermeiros sobre a visita de enfermagem nas unidades de cirurgia em estudo.Background: Although bedside nursing handover ensures the
continuity of nursing care, it raises several ethical issues.
Objectives: To translate, adapt and validate 2 data collection
questionnaires about bedside nursing handover in surgical
units into Portuguese, and identify the patients and nurses’
opinions about bedside nursing handover.
Methodology: Translation, back-translation and adaptation
of the questionnaires in 7 surgical units of a central hospital
in Portugal between 22/08/2008 and 28/06/2009. The non-
-probability sampling consisted of 137 nurses and 96 patients.
Results: Bedside nursing handover promotes an empathic and
helping relationship, patient observation and care planning;
however, it is necessary to clarify its purpose, encourage
patient participation and engagement, use clear information,
and ensure information privacy.
Conclusion: The questionnaires proved to be reliable and
valid to identify the patients and nurses’ opinions about
bedside nursing handover in the surgical units under analysis
Aberrant p15, p16, p53, and DAPK Gene Methylation in Myelomagenesis: Clinical and Prognostic Implications
Get PDFBACKGROUND:
Aberrant DNA methylation is considered a crucial mechanism in the pathogenesis of monoclonal gammopathies. We aimed to investigate the contribution of hypermethylation of 4 tumor suppressor genes to the multistep process of myelomagenesis.
METHODS:
The methylation status of p15, p16, p53, and DAPK genes was evaluated in bone marrow samples from 94 patients at diagnosis: monoclonal gammopathy of uncertain significance (MGUS) (n = 48), smoldering multiple myeloma (SMM) (n = 8) and symptomatic multiple myeloma (MM) (n = 38), and from 8 healthy controls by methylation-specific polymerase chain reaction analysis.
RESULTS:
Overall, 63% of patients with MM and 39% of patients with MGUS presented at least 1 hypermethylated gene (P < .05). No aberrant methylation was detected in normal bone marrow. The frequency of methylation for individual genes in patients with MGUS, SMM, and MM was p15, 15%, 50%, 21%; p16, 15%, 13%, 32%; p53, 2%, 12,5%, 5%, and DAPK, 19%, 25%, 39%, respectively (P < .05). No correlation was found between aberrant methylation and immunophenotypic markers, cytogenetic features, progression-free survival, and overall survival in patients with MM.
CONCLUSIONS:
The current study supports a relevant role for p15, p16, and DAPK hypermethylation in the genesis of the plasma cell neoplasm. DAPK hypermethylation also might be an important step in the progression from MGUS to MM.info:eu-repo/semantics/publishedVersio
Stressors in anaesthesiology: development and validation of a new questionnaire: A cross-sectional study of Portuguese anaesthesiologists
Get PDFBACKGROUND:
Stress in anaesthesiologists is a common and multifactorial problem related to patients, colleagues and organisations. The consequences of stress include depression, work-home conflicts and burnout. Reduction in stress can be achieved by reducing the number and magnitude of stressors or by increasing resilience strategies.
OBJECTIVES:
We have created the self-reporting 'Stress Questionnaire in Anaesthesiologists' (SQA), to qualify the sources of stress in anaesthesiologists' professional lives, and measure the level of associated stress. Our study aimed to develop and validate the SQA using exploratory and confirmatory factor analyses. Construct validity was assessed through correlations between SQA and negative psychological outcomes as well as by comparing perception of stress among different known groups.
DESIGN:
A questionnaire-based cross-sectional, correlational, observational study.
SETTINGS:
The study was conducted between January 2014 and December 2014, throughout different anaesthesia departments in Portuguese hospitals. Data collection was from a representative subset at one specific time point.
PARTICIPANTS:
A sample of 710 anaesthesia specialists and residents from Portugal.
MAIN OUTCOME MEASURES:
The primary outcome measure was to identify specific stressors in anaesthesiologists. Secondary outcome was the association between stressors and burnout, depression symptoms, anxiety, stress, rumination, satisfaction with life and functional impairment.
RESULTS:
The exploratory analysis showed the SQA is a tri-dimensional instrument and confirmatory analysis showed the tri-dimensional structure presented good model fit. The three dimensions of SQA correlated positively with other stress measures and burnout, but negatively with satisfaction with life.
CONCLUSION:
SQA is a well adjusted measure for assessing stressors in anaesthesia physicians and includes clinical, organisational and team stress factors. Results showed that the SQA is a robust and reliable instrument.info:eu-repo/semantics/publishedVersio